Mutations in KERA, encoding keratocan, cause cornea plana

  title={Mutations in KERA, encoding keratocan, cause cornea plana},
  author={Natalia S. Pellegata and Jos{\'e} L. Dieguez-Lucena and Tarja Joensuu and Stephanie T Lau and Kate T. Montgomery and Ralf Krahe and Tero T Kivel{\"a} and Raju Kucherlapati and Henrik Forsius and Albert de la Chapelle},
  journal={Nature Genetics},
Specialized collagens and small leucine-rich proteoglycans (SLRPs) interact to produce the transparent corneal structure. In cornea plana, the forward convex curvature is flattened, leading to a decrease in refraction. A more severe, recessively inherited form (CNA2; MIM 217300) and a milder, dominantly inherited form (CNA1; MIM 121400) exist. CNA2 is a rare disorder with a worldwide distribution, but a high prevalence in the Finnish population. The gene mutated in CNA2 was assigned by linkage… CONTINUE READING
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